Presentation
Osteopenia or osteoporosis was present in all patients of our cohort, sometimes with severe clinical implications. [ojrd.biomedcentral.com]
Affected individuals may also present with eye, skin, and cardiac disease, as well as facial dysmorphisms. [atm.amegroups.com]
Now, some CDG types have been recognized as presenting with ASD [76], with most frequent presented in Table 5. Table 5 Autistic spectrum disorder as a feature of CDG [5,14,20,23,76]. [ncbi.nlm.nih.gov]
[…] not present) Close to 100% when using the serum transferrin isoelectrofocusing test. [nature.com]
Entire Body System
- Dysostosis
Spondylocostal dysostosis 3, autosomal recessive 609813 O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Tags Red Red List (low evidence) NUS1 1 review [panelapp.genomicsengland.co.uk]
Liver, Gall & Pancreas
- Protein S Deficiency
[…] losing enteropathy, diarrhea, FTT, GERD, hepatopathy with transaminitis, edema and hypoalbuminemia, low cholesterol Coagulopathy and thrombosis (factor II, V, VII, VIII, IX, X, XI, antithrombin III, protein C, protein S deficiency), hypogammopathy Hyperechoic [ncbi.nlm.nih.gov]
Neurologic
- Spastic Quadriplegia
Péanne et al. mentioned about the possibility of spastic quadriplegia in COG-CDG and peripheral hypertonia in PIGP-CDG [4]. 9. [ncbi.nlm.nih.gov]
Workup
Conclusion We confirm that CDG screening should be a part of the routine workup of adolescent/adult patients with sporadic or presumably autosomal recessive cerebellar ataxia, even in the absence of other suggestive signs. [ojrd.biomedcentral.com]
X-Ray
- Pericardial Effusion
Cited by 5 articles Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. [pubmed.ncbi.nlm.nih.gov]
Fluid accumulation around the lungs or heart (pleural or pericardial effusions) has also been reported. [rarediseases.org]
Infants may also have hepatic disease, nephrotic syndrome and renal cysts, pericardial effusion and hypertrophic cardiomyopathy, failure to thrive, and multi-organ failure resulting in death within the first year of life in up to 20% of affected individuals [ncbi.nlm.nih.gov]
Serum
- Hypoalbuminemia
Infants with CDG may present with fulminant multi-organ disease, intractable seizures, or severe hypoalbuminemia progressing to anasarca. Some patients respond to aggressive diuresis and albumin replacement while others are refractive to treatment. [ncbi.nlm.nih.gov]
Hypocholesterolemia was found in 6/15 patients, hypoalbuminemia in 3/7 and elevated liver enzymes in 2/16. [ojrd.biomedcentral.com]
- Neutropenia
severe congenital 4, autosomal recessive OMIM:612541 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0012930 Tags Q2_21_rating Amber Amber List (moderate evidence) GORAB 3 reviews 2 green 1 red BIALLELIC, autosomal or [panelapp.genomicsengland.co.uk]
Five patients presented blood count abnormalities, i.e. neutropenia (n = 2) or thrombocytopenia (n = 4). Five patients had venous thrombotic events in lower or upper limbs. [ojrd.biomedcentral.com]
Treatment
ALT and AST were elevated before treatment, with a rapid decrease (3 weeks) after introduction of treatment. (Fig. 3a). [ojrd.biomedcentral.com]
Treatment for glycosylation defects is mainly supportive, although targeted therapies are available for MPI-CDG, SLC35C1-CDG, PIGM-CDG, and PGM1-CDG. Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency. [ncbi.nlm.nih.gov]
Standard Therapies Treatment The treatment of most forms of CDG is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Acta Paediatr 91: 1065–72 CrossRef PubMed CAS Google Scholar Mention K, Lacaille F, Valayannopoulos V, et al. (2008) Development of liver disease despite mannose treatment in two patients with CDG-Ib. [link.springer.com]
Prognosis
Prognosis (please describe) The prognosis regarding quality of life is mainly determined by the nature and the degree of the brain and eye involvement. [nature.com]
Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. [rarediseases.org]
Details about these treatments are under the “Targeted Therapies and Prognosis” section below. [atm.amegroups.com]
Etiology
Clinical features and genetic etiology of more common CDG by pathway is summarized in Table S1. [atm.amegroups.com]
Epidemiology
Epidemiology The incidence and prevalence of all types of CDG in aggregate have not been well established, although patients have been reported worldwide from almost every ethnic background and both sexes are equally affected. [atm.amegroups.com]
Pathophysiology
Although the pathophysiology of multitude symptoms remains to be elucidated, the relationship between certain glycosylation pathways and specific clinical symptoms has been clarified. [atm.amegroups.com]
Prevention
This has been mentioned in other samples of adult PMM2-CDG patients [16],[23] and implies the importance of specific monitoring to prevent fractures. [ojrd.biomedcentral.com]
In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of the active enzyme and prevent the development and progression of the disease. [rarediseases.org]